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Aliases for ZNF687 Gene

Aliases for ZNF687 Gene

  • Zinc Finger Protein 687 2 3 5
  • KIAA1441 4
  • PDB6 3

External Ids for ZNF687 Gene

Previous GeneCards Identifiers for ZNF687 Gene

  • GC01P148069
  • GC01P149520
  • GC01P122632

Summaries for ZNF687 Gene

Entrez Gene Summary for ZNF687 Gene

  • This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for ZNF687 Gene

ZNF687 (Zinc Finger Protein 687) is a Protein Coding gene. Diseases associated with ZNF687 include Paget Disease Of Bone 6 and Paget's Disease Of Bone. An important paralog of this gene is ZNF532.

UniProtKB/Swiss-Prot for ZNF687 Gene

  • May be involved in transcriptional regulation.

Gene Wiki entry for ZNF687 Gene

Additional gene information for ZNF687 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF687 Gene

Genomics for ZNF687 Gene

Regulatory Elements for ZNF687 Gene

Enhancers for ZNF687 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H151193 2 FANTOM5 Ensembl ENCODE dbSUPER 44.7 -83.9 -83909 7.7 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ZNF143 ZNF687 PIP5K1A SETDB1 ARNT PI4KB PRPF3 GOLPH3L UBE2D3P3 PRUNE1 SCNM1
GH01H150969 1.8 FANTOM5 ENCODE dbSUPER 41.4 -306.6 -306598 10.6 MLX ZFP64 DMAP1 YY1 ZNF143 SP3 ZC3H11A SSRP1 GLIS1 RCOR2 HORMAD1 SETDB1 ZNF687 PRPF3 PIP5K1A ARNT GOLPH3L PI4KB UBE2D3P3 GABPB2
GH01H150486 1.2 ENCODE 54.2 -793.9 -793916 1.7 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D SETDB1 PIP5K1A PRPF3 SF3B4 ZNF687 GABPB2 PI4KB GOLPH3L ARNT UBE2D3P3
GH01H151054 1.7 Ensembl ENCODE dbSUPER 34.6 -222.6 -222552 9.9 YBX1 FEZF1 DMAP1 ZNF143 SP3 MEF2D GLIS1 NBN NR2C1 KDM1A SETDB1 PRPF3 ARNT PIP5K1A GABPB2 PI4KB UBE2D3P3 ZNF687 GOLPH3L CTSK
GH01H151456 1.1 ENCODE 50.7 +176.9 176901 3.6 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF766 SETDB1 PI4KB ZNF687 PIP5K1A UBE2D3P3 GABPB2 POGZ ARNT SELENBP1 GOLPH3L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF687 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF687 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000013603 745 2601 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D ZNF610

Genomic Locations for ZNF687 Gene

Genomic Locations for ZNF687 Gene
chr1:151,281,555-151,292,180
(GRCh38/hg38)
Size:
10,626 bases
Orientation:
Plus strand
chr1:151,254,094-151,264,656
(GRCh37/hg19)

Genomic View for ZNF687 Gene

Genes around ZNF687 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF687 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF687 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF687 Gene

Proteins for ZNF687 Gene

  • Protein details for ZNF687 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1G0-ZN687_HUMAN
    Recommended name:
    Zinc finger protein 687
    Protein Accession:
    Q8N1G0
    Secondary Accessions:
    • D3DV17
    • Q68DQ8
    • Q9H937
    • Q9P2A7

    Protein attributes for ZNF687 Gene

    Size:
    1237 amino acids
    Molecular mass:
    129529 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92679.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14406.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH18162.1; Type=Frameshift; Positions=1062; Evidence={ECO:0000305};

    Alternative splice isoforms for ZNF687 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF687 Gene

Post-translational modifications for ZNF687 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF687 Gene

Domains & Families for ZNF687 Gene

Gene Families for ZNF687 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF687 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF687 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N1G0

UniProtKB/Swiss-Prot:

ZN687_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF687: view

Function for ZNF687 Gene

Molecular function for ZNF687 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZNF687 Gene

Gene Ontology (GO) - Molecular Function for ZNF687 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 26496610
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF687: view
genes like me logo Genes that share phenotypes with ZNF687: view

Human Phenotype Ontology for ZNF687 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF687 Gene

Localization for ZNF687 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF687 Gene

Cytoplasm. Nucleus. Note=Predominantly nuclear. {ECO:0000269 PubMed:26849110}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF687 gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF687 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ZNF687: view

Pathways & Interactions for ZNF687 Gene

SuperPathways for ZNF687 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF687 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZNF687: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF687 Gene

Drugs & Compounds for ZNF687 Gene

No Compound Related Data Available

Transcripts for ZNF687 Gene

Unigene Clusters for ZNF687 Gene

Zinc finger protein 687:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF687 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: -
SP2:

Relevant External Links for ZNF687 Gene

GeneLoc Exon Structure for
ZNF687
ECgene alternative splicing isoforms for
ZNF687

Expression for ZNF687 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF687 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF687 Gene

This gene is overexpressed in Placenta (14.3), Peripheral blood mononuclear cells (12.9), Pancreas (9.2), Retina (8.4), and Blymphocyte (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZNF687 Gene



Protein tissue co-expression partners for ZNF687 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZNF687 Gene:

ZNF687

SOURCE GeneReport for Unigene cluster for ZNF687 Gene:

Hs.186756

mRNA Expression by UniProt/SwissProt for ZNF687 Gene:

Q8N1G0-ZN687_HUMAN
Tissue specificity: Widely expressed with highest levels in obvary, muscle, blood and lung.

Evidence on tissue expression from TISSUES for ZNF687 Gene

  • Nervous system(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with ZNF687: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF687 Gene

Orthologs for ZNF687 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF687 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF687 33 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia ZNF687 33 34
  • 89.03 (n)
dog
(Canis familiaris)
Mammalia ZNF687 33 34
  • 87.75 (n)
mouse
(Mus musculus)
Mammalia Zfp687 33 16 34
  • 84.93 (n)
rat
(Rattus norvegicus)
Mammalia LOC100363361 33
  • 83.71 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNF687 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 27 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC100857876 33
  • 65.04 (n)
ZNF687 34
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNF687 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf687 33
  • 65.66 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-204a24.9 33
  • 55.17 (n)
znf687a 34
  • 36 (a)
OneToMany
znf687b 34
  • 34 (a)
OneToMany
Dr.16948 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for ZNF687 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF687 Gene

ENSEMBL:
Gene Tree for ZNF687 (if available)
TreeFam:
Gene Tree for ZNF687 (if available)

Paralogs for ZNF687 Gene

Paralogs for ZNF687 Gene

(1) SIMAP similar genes for ZNF687 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ZNF687: view

Variants for ZNF687 Gene

Sequence variations from dbSNP and Humsavar for ZNF687 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs148402804 Pathogenic, Paget disease of bone 6 (PDB6) [MIM:616833] 151,289,853(+) TGAGC(A/C/G/T)CCCCC reference, missense
rs869025582 Pathogenic, Paget disease of bone 6 (PDB6) [MIM:616833] 151,287,016(+) CTCCA(G/T)CCCTA reference, missense
rs1000179997 -- 151,291,336(+) AACCT(-/GAA)GAAGA downstream-variant-500B, utr-variant-3-prime, cds-indel
rs1000187800 -- 151,287,873(+) TGGCC(C/G/T)TGCCT reference, synonymous-codon, missense
rs1000230908 -- 151,291,651(+) GCCCC(C/T)GCCCC downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ZNF687 Gene

Variant ID Type Subtype PubMed ID
nsv522840 CNV gain 19592680
esv34461 CNV gain 17911159
dgv2n68 CNV loss 17160897

Variation tolerance for ZNF687 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF687 Gene

Human Gene Mutation Database (HGMD)
ZNF687
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF687

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF687 Gene

Disorders for ZNF687 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZNF687 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
paget disease of bone 6
  • pdb6
paget's disease of bone
  • familial paget's disease of bone
giant cell tumor
  • giant cell neoplasm
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN687_HUMAN
  • Paget disease of bone 6 (PDB6) [MIM:616833]: An autosomal dominant form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone. {ECO:0000269 PubMed:26849110}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZNF687

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF687
genes like me logo Genes that share disorders with ZNF687: view

No data available for Genatlas for ZNF687 Gene

Publications for ZNF687 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  2. ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. (PMID: 26849110) Divisato G … Gianfrancesco F (American journal of human genetics 2016) 3 4 60
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for ZNF687 Gene

Sources for ZNF687 Gene

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